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PLP1 proteolipid protein 1 [ Homo sapiens (human) ]

Gene ID: 5354, updated on 7-Apr-2024

Summary

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Official Symbol
PLP1provided by HGNC
Official Full Name
proteolipid protein 1provided by HGNC
Primary source
HGNC:HGNC:9086
See related
Ensembl:ENSG00000123560 MIM:300401; AllianceGenome:HGNC:9086
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PLP; PMD; HLD1; MMPL; SPG2; GPM6C; PLP/DM20
Summary
This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 2015]
Expression
Restricted expression toward brain (RPKM 1259.3) See more
Orthologs
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Genomic context

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See PLP1 in Genome Data Viewer
Location:
Xq22.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (103776506..103792619)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (102223463..102239585)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (103031434..103047548)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MORF4L2 antisense RNA 1 Neighboring gene mortality factor 4 like 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:102951966-102952716 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:102952717-102953467 Neighboring gene glycine receptor alpha 4 (pseudogene) Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:102985791-102986664 Neighboring gene transmembrane protein 31 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:102996691-102997226 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:102997227-102997764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:103009420-103009920 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:103020819-103021470 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:103022123-103022774 Neighboring gene RAB9B, member RAS oncogene family Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:103061708-103062907 Neighboring gene RNA, 5S ribosomal pseudogene 511 Neighboring gene TMSB15B antisense RNA 1 Neighboring gene H2B histone pseudogene 9

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. PLP1 gene mutations cause spastic paraplegia type 2 in three families. Yao L, et al. Ann Clin Transl Neurol, 2023 Mar. PMID 36622199, Free PMC Article
  2. Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease. Duan R, et al. Neuroscience, 2021 Nov 10. PMID 34506833
  3. Correlation Between Anti-Myelin Proteolipid Protein (PLP) Antibodies and Disease Severity in Multiple Sclerosis Patients With PLP Response-Permissive HLA Types. Greer JM, et al. Front Immunol, 2020. PMID 32973782, Free PMC Article
  4. Myelin Water Fraction Imaging Reveals Hemispheric Asymmetries in Human White Matter That Are Associated with Genetic Variation in PLP1. Ocklenburg S, et al. Mol Neurobiol, 2019 Jun. PMID 30242727
  5. Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report. Lyahyai J, et al. BMC Pediatr, 2018 Feb 27. PMID 29486744, Free PMC Article

See all (184) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.
    Title: Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.
  2. PLP1 gene mutations cause spastic paraplegia type 2 in three families.
    Title: PLP1 gene mutations cause spastic paraplegia type 2 in three families.
  3. Identifying oligodendrocyte enhancers governing Plp1 expression.
    Title: Identifying oligodendrocyte enhancers governing Plp1 expression.
  4. Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease.
    Title: Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease.
  5. Correlation Between Anti-Myelin Proteolipid Protein (PLP) Antibodies and Disease Severity in Multiple Sclerosis Patients With PLP Response-Permissive HLA Types.
    Title: Correlation Between Anti-Myelin Proteolipid Protein (PLP) Antibodies and Disease Severity in Multiple Sclerosis Patients With PLP Response-Permissive HLA Types.
  6. These findings support the assumption that genetic variation in PLP1 affects white matter myelination in the healthy human brain.
    Title: Myelin Water Fraction Imaging Reveals Hemispheric Asymmetries in Human White Matter That Are Associated with Genetic Variation in PLP1.
  7. demonstrate for the first time that the wmN1 enhancer region: (1) is functional in hPLP1
    Title: The wmN1 enhancer region in intron 1 is required for expression of human PLP1.
  8. PLP1 mutation is associated with hereditary spastic paraplegia.
    Title: Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.
  9. Findings suggest that PLP1 and CNTN1 gene variations modulate specific aspects of callosal microstructure that are in line with their gene function.
    Title: PLP1 and CNTN1 gene variation modulates the microstructure of human white matter in the corpus callosum.
  10. three single nucleotide polymorphisms in PLP1 that were associated with interhemispheric integration via the corpus callosum in a previous study also are relevant for functional hemispheric asymmetries.
    Title: PLP1 Gene Variation Modulates Leftward and Rightward Functional Hemispheric Asymmetries.
Submit: New GeneRIF Correction See all GeneRIFs (82)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hereditary spastic paraplegia 2
MedGen: C1839264 OMIM: 312920 GeneReviews: PLP1 Disorders
Compare labs
Pelizaeus-Merzbacher disease
MedGen: C0205711 OMIM: 312080 GeneReviews: PLP1 Disorders
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-12)

ClinGen Genome Curation PagePubMed
Triplosensitivity

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-12)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
enables structural constituent of myelin sheath IBA
Inferred from Biological aspect of Ancestor
more info
  
enables structural molecule activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in AMPA selective glutamate receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in astrocyte development IEA
Inferred from Electronic Annotation
more info
  
involved_in axon development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in axon ensheathment TAS
Traceable Author Statement
more info
 PubMed 
involved_in central nervous system myelination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
 PubMed 
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in long-chain fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of cell migration IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in substantia nigra development HEP PubMed 
Component Evidence Code Pubs
part_of integrin alphav-beta3 complex IEA
Inferred from Electronic Annotation
more info
  
is_active_in myelin sheath IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
myelin proteolipid protein
Names
lipophilin
major myelin proteolipid protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008863.2 RefSeqGene

    Range
    5330..21109
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000533.5 → NP_000524.3  myelin proteolipid protein isoform 1

    See identical proteins and their annotated locations for NP_000524.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as PLP) encodes the longest isoform (1). Variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AK292728, BC095452, DA299940
    Consensus CDS
    CCDS14513.1
    UniProtKB/Swiss-Prot
    P04400, P06905, P60201, Q502Y1, Q6FHZ6
    UniProtKB/TrEMBL
    A8K9L3, B4DI21, E7EMV6
    Related
    ENSP00000484450.1, ENST00000621218.5
    Conserved Domains (1) summary
    pfam01275
    Location:5 → 273
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

  2. NM_001128834.3 → NP_001122306.1  myelin proteolipid protein isoform 1

    See identical proteins and their annotated locations for NP_001122306.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AK292728, BC095452, DC342197
    Consensus CDS
    CCDS14513.1
    UniProtKB/Swiss-Prot
    P04400, P06905, P60201, Q502Y1, Q6FHZ6
    UniProtKB/TrEMBL
    A8K9L3, B4DI21, E7EMV6
    Related
    ENSP00000481006.1, ENST00000612423.4
    Conserved Domains (1) summary
    pfam01275
    Location:5 → 273
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

  3. NM_001305004.1 → NP_001291933.1  myelin proteolipid protein isoform 3

    See identical proteins and their annotated locations for NP_001291933.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has a shorter 5' UTR and uses an alternate in-frame acceptor site compared to variant 1. It encodes a shorter isoform (3) than isoform 1.
    Source sequence(s)
    AK292728, AK295388, BC095452, DC342996
    UniProtKB/TrEMBL
    B4DI30
    Conserved Domains (1) summary
    pfam01275
    Location:2 → 218
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

  4. NM_199478.3 → NP_955772.1  myelin proteolipid protein isoform 2

    See identical proteins and their annotated locations for NP_955772.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as DM20) uses an alternate in-frame donor splice site compared to variant 1. It encodes a shorter isoform (2) than isoform 1.
    Source sequence(s)
    AK292728, BC095452, DA299940
    Consensus CDS
    CCDS14514.1
    UniProtKB/TrEMBL
    A0A0S2Z4D4, Q5U0F2, Q5U0F3
    Related
    ENSP00000477619.1, ENST00000619236.1
    Conserved Domains (1) summary
    pfam01275
    Location:5 → 238
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    103776506..103792619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    102223463..102239585
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P60201.2 GenPept UniProtKB/Swiss-Prot:P60201

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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